Canonical Allele Identifier: CA2635583400
Gene: PFN1 HGNC NCBI

Linked Data

gnomAD v4: 17-4946057-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4946057C>G , CM000679.2:g.4946057C>G GRCh38
NC_000017.10:g.4849352C>G , CM000679.1:g.4849352C>G GRCh37
NC_000017.9:g.4790097C>G NCBI36
NG_012063.2:g.4967C>G
NG_032945.1:g.8030G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000225655.6:c.326-60G>C MANE Select ENSP00000225655.5:n.326-60G>C
ENST00000225655.5:c.326-60G>C ENSP00000225655.5:n.326-60G>C
ENST00000574872.1:c.218-60G>C ENSP00000465019.1:n.218-60G>C
NM_005022.3:c.326-60G>C NP_005013.1:n.326-60G>C
XM_017024761.1:c.*350G>C XP_016880250.1:n.*350G>C
NM_001375991.1:c.*350G>C NP_001362920.1:n.*350G>C
NM_005022.4:c.326-60G>C MANE Select NP_005013.1:n.326-60G>C
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